Proprotein Convertase 1/3 Deficiency

  • Gurinder Kumar
  • Rajendran Nair
  • Aman P. S. Sohal
Scientific Letter

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

  1. 1.
    Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr. 2010;50:360–6.PubMedGoogle Scholar
  2. 2.
    Jackson RS, Creemers JW, Ohagi S, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet. 1997;16:303–6.CrossRefPubMedGoogle Scholar
  3. 3.
    Bandsma RH, Sokollik C, Chami R, et al. From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics. J Clin Gastroenterol. 2013;47:834–43.CrossRefPubMedGoogle Scholar
  4. 4.
    Farooqi IS, Volders K, Stanhope R, et al. Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. J Clin Endocrinol Metab. 2007;92:3369–73.Google Scholar
  5. 5.
    Martín MG, Lindberg I, Solorzano-Vargas RS, et al. Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. Gastroenterol. 2013;145:138–48.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  1. 1.Department of Pediatric NephrologySheikh Khalifa Medical CityAbu DhabiUnited Arab Emirates
  2. 2.Department of PediatricsSheikh Khalifa Medical CityAbu DhabiUnited Arab Emirates
  3. 3.Department of Pediatric NeurologySheikh Khalifa Medical CityAbu DhabiUnited Arab Emirates

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